Quiz 4: Genes and Genetic Diseases
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1. Inserting bone marrow cells into an individual who produces abnormal erythrocytes is an example of what type of therapy?
a. Somatic cell c. Genetic engineering
b. Germ cell d. Recombinant DNA
2. DNA replication requires the enzyme DNA polymerase to:
a. Travel along the single DNA strand, adding the correct nucleotide to the new strand
b. Move along the double strand of DNA to unwind the nucleotides of the double helix
c. Hold the double strand apart while the correct nucleotides are added to the strand
d. Transport the double strand of DNA from the nucleus to the cytoplasm for protein formation
3. Transcription is best defined as a process by which:
a. DNA polymerase binds to the promoter site on ribonucleic acid (RNA).
b. RNA directs the synthesis of polypeptides for protein synthesis.
c. RNA is synthesized from a DNA template.
d. A base pair substitution results in a mutation of the amino acid sequence.
4. The purpose of a staining technique of chromosomes such as Giemsa is to:
a. Permit the mitotic process to be followed and monitored for variations.
b. Allow for the numbering of chromosomes and the identification of variations.
c. Identify new somatic cells formed through mitosis and cytokinesis.
d. Distinguish the sex chromosomes from the homologous chromosomes.
5. An amniocentesis indicates a neural tube defect when an increase in which protein is evident?
a. Chorionic c. Amniotic
b. Alpha fetoprotein d. Embryonic
6. An amniocentesis is recommended for pregnant women who:
a. Have a history of chronic illness
b. Have a family history of genetic disorders
c. Have experienced in vitro fertilization
d. Had a late menarche
7. The most clinically useful technique for prenatal diagnosis of chromosomal abnormalities at 3 months’ (12 weeks’) gestation is:
a. Gene mapping c. Amniocentesis
b. Linkage analysis d. Chorionic villus sampling
8. The term for an error in which homologous chromosomes fail to separate during meiosis or mitosis is:
a. Aneuploidy c. Polyploidy
b. Nondisjunction d. Translocation
9. Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?
a. Widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair
b. An IQ of 25 to 70, low nasal bridge, protruding tongue, and flat, low-set ears
c. High-pitched voice, tall stature, gynecomastia, and an IQ of 60 to 90
d. Circumoral cyanosis, edema of the feet, short stature, and mental slowness
10. What is the most common cause of Down syndrome?
a. Paternal nondisjunction c. Maternal nondisjunction
b. Maternal translocations d. Paternal translocation
11. What syndrome, characterized by an absent homologous X chromosome with only a single X chromosome, exhibits features that include a short stature, widely spaced nipples, and webbed neck?
a. Down c. Turner
b. Cri du chat d. Klinefelter
12. A person with 47, XXY karyotype has the genetic disorder resulting in which syndrome?
a. Turner c. Down
b. Klinefelter d. Fragile X
13. What is the chromosomal variation that causes Klinefelter syndrome?
a. Nondisjunction of the X chromosome in the father
b. Translocation of the X chromosome in the mother
c. Nondisjunction of X chromosome in the mother
d. Translocation of the Y chromosome in the father
14. What is the second most commonly recognized genetic cause of mental retardation?
a. Down syndrome c. Klinefelter syndrome
b. Fragile X syndrome d. Turner syndrome
15. What is the blood type of a person who is heterozygous, having A and B alleles as codominant?
a. A c. O
b. B d. AB
16. A couple has two children diagnosed with an autosomal dominant genetic disease. What is the probability that the next child will have the same genetic disease?
a. One sixth c. One third
b. One fourth d. One half
17. When a child inherits a disease that is autosomal recessive, it is inherited from:
a. Father c. Both parents
b. Mother d. Grandparent
18. People diagnosed with neurofibromatosis have varying degrees of the condition because of the genetic principle of:
a. Penetrance c. Dominance
b. Expressivity d. Recessiveness
19. Which genetic disease has been linked to a mutation of the tumor-suppressor gene?
a. Hemochromatosis c. Familial breast cancer
b. Retinoblastoma d. Hemophilia A
20. Cystic fibrosis is caused by what type of gene?
a. X-linked dominant c. Autosomal dominant
b. X-linked recessive d. Autosomal recessive
21. Which is an important criterion for discerning autosomal recessive inheritance?
a. Consanguinity is sometimes present.
b. Females are affected more than males.
c. The disease is observed in both the parents, as well as in the siblings.
d. On average, one half of the offspring of the carrier will be affected.
22. Consanguinity refers to the mating of persons:
a. Who are unrelated
b. When one has an autosomal dominant disorder
c. Having common family relations
d. When one has a chromosomal abnormality
23. Males, having only one X chromosome (as is expected), are said to be:
a. Homozygous c. Hemizygous
b. Heterozygous d. Ambizygous
24. Males are more often affected by which type of genetic disease?
a. Sex-linked dominant c. Sex-linked
b. Sex-influenced d. Sex-linked recessive
25. An X-linked recessive disease can skip generations because:
a. Females are hemizygous for the X chromosome.
b. The disease can be transmitted through female carriers.
c. Mothers cannot pass X-linked genes to their sons.
d. These diseases need only one copy of the gene in females.
26. The presence of a zygote having one chromosome with the normal complement of genes and one with a missing gene is characteristic of which genetic disorder?
a. Cri du chat c. Klinefelter syndrome
b. Down syndrome d. Turner syndrome
27. A child with which genetic disorder has a characteristic cry?
a. Down syndrome c. Turner syndrome
b. Klinefelter syndrome d. Cri du chat
28. Which statement is true regarding X-linked recessive conditions?
a. Such diseases use males as phenotypical carriers.
b. These conditions are passed from affected father to all of his female children.
c. 25% of an affected individual’s grandsons will be affected.
d. Cystic fibrosis is an example of such a condition.
29. DNA formation occurs in which of the cell’s structures?
a. Nucleus c. Organelle
b. Cytoplasm d. Membrane
30. What is the risk for the recurrence of autosomal dominant diseases?
a. 10% c. 50%
b. 30% d. 70%
31. An individual’s genetic makeup is referred to as his or her:
a. Phenotype c. Heterozygous locus
b. Genotype d. Homozygous locus
32. Which disorders have similar modes of inheritance? (Select all that apply.)
a. Cri du chat syndrome
b. Duchenne muscular dystrophy
c. Polycystic kidney disease
d. Down syndrome
e. Becker muscular dystrophy
33. The key to accurate DNA replication depends on which complementary base pairs? (Select all that apply.)
a. Adenine with thymine
b. Adenine with guanine
c. Guanine with cytosine
d. Cytosine with thymine
e. Guanine with thymine
34. Chromosomal abnormalities are the leading known cause of: (Select all that apply.)
a. Mental illness
b. Mental retardation
c. Fetal miscarriage
d. Cardiovascular disease
e. Respiratory disorders
35. Examples of prenatal diagnostic studies include: (Select all that apply.)
a. Chorionic villus sampling (CVS)
c. Carrier screening
d. Preimplantation genetic diagnosis (PGD)
e. Drug-sensitivity testing
36. The advantage derived from human genome sequencing on genetic disorders focuses on: (Select all that apply.)
a. Identification of the mutated gene
b. Reversal of the mutation
c. Diagnosis of the existing disorder
d. Appropriate treatment
e. Prevention of the disorder
Match the genetic terms with the corresponding diseases. Terms may be used more than once.
______ A. Autosomal dominant
______ B. Autosomal recessive
______ C. X-linked dominant
______ D. X-linked recessive
37. Cystic fibrosis
38. Duchenne muscular dystrophy
39. Sickle cell disease
40. Huntington disease